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Torsion Dystonia 6 (MONDO:0011264)

Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0011264

Internal:12384

Synonyms

DYT-THAP1

DYT6

THAP1 generalised isolated dystonia

THAP1 generalized isolated dystonia

generalised cervical and upper-limb-onset dystonia

generalised isolated dystonia caused by mutation in THAP1

generalized cervical and upper-limb-onset dystonia

generalized isolated dystonia caused by mutation in THAP1

idiopathic torsion dystonia of mixed type

torsion dystonia type 6

adolescent-onset dystonia of mixed type

dystonia 6

dystonia 6, torsion

primary dystonia, DYT6 type

torsion dystonia adult onset mixed type

torsion dystonia, adult-onset, mixed type

Mapped terms

DOID:0090039

GARD:0009630

MEDGEN:236274

MESH:C538003

NANDO:1200517

NCIT:C156361

OMIM:602629

Orphanet:98806

SCTID:702448007

UMLS:C1414216

Child terms

Unknown children.

Results

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